If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
| pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
75
|
107
|
239
|
913
|
44
|
2
|
1308
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
60
|
15
|
139
|
901
|
42
|
0 |
1157
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
73
|
9
|
7
|
0 |
89
|
|
Baylor Genetics
|
4
|
36
|
9
|
0 |
0 |
0 |
49
|
|
Myriad Genetics, Inc.
|
0 |
38
|
0 |
0 |
0 |
0 |
38
|
|
Counsyl
|
1
|
6
|
15
|
1
|
0 |
0 |
23
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
10
|
2
|
1
|
0 |
14
|
|
Revvity Omics, Revvity
|
1
|
1
|
10
|
0 |
0 |
0 |
12
|
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
6
|
0 |
0 |
0 |
0 |
6
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
|
Mendelics
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenePathDx, GenePath diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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